PTEN Gene

HGNC Family	Phosphatases, C2 domain containing
Name	phosphatase and tensin homolog
Description	This gene was identified as a tumor suppressor that is mutated in a large number of cancers at high frequency. The protein encoded by this gene is a phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase. It contains a tensin like domain as well as a catalytic domain similar to that of the dual specificity protein tyrosine phosphatases. Unlike most of the protein tyrosine phosphatases, this protein preferentially dephosphorylates phosphoinositide substrates. It negatively regulates intracellular levels of phosphatidylinositol-3,4,5-trisphosphate in cells and functions as a tumor suppressor by negatively regulating AKT/PKB signaling pathway. The use of a non-canonical (CUG) upstream initiation site produces a longer isoform that initiates translation with a leucine, and is thought to be preferentially associated with the mitochondrial inner membrane. This longer isoform may help regulate energy metabolism in the mitochondria. A pseudogene of this gene is found on chromosome 9. Alternative splicing and the use of multiple translation start codons results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2015]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nPTEN is a critical tumor‐suppressor molecule that functions primarily as a lipid phosphatase, converting phosphatidylinositol‐(3,4,5)‐trisphosphate into its inactive form and thereby antagonizing PI3K–AKT–mTOR signaling. This central enzymatic activity regulates key cellular processes including survival, proliferation, metabolism, migration, and cellular architecture. In addition, PTEN exerts nuclear functions that help to maintain chromosomal integrity and ensure proper DNA repair, often through mechanisms that depend on its regulated intracellular localization and post‐translational modifications such as oxidation and ubiquitination. These multiple layers of regulation highlight PTEN’s role as a “guardian” of cellular homeostasis and genome integrity."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "5"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nPTEN expression and activity are tightly controlled by multiple regulatory mechanisms. Its abundance is modulated at the transcriptional and post‐transcriptional levels by factors including noncoding RNAs. Several microRNAs—notably, miR‐214 in ovarian cancer, miR‐21 and miR‐181b‐1 in inflammation‐associated malignancy, and others delivered via exosomes from surrounding stromal cells—can repress PTEN expression by binding its 3′‐UTR or indirectly via ceRNA networks. In parallel, post‐translational modifications, such as ubiquitination (mediated by ubiquitin ligases like NEDD4‐1) and oxidative modification (for example, reversible inactivation by H₂O₂), as well as modulation by regulatory proteins such as DJ‐1 and adaptor molecules, further dictate PTEN stability and subcellular localization. These layers of regulation underscore how subtle alterations in PTEN level or function can tip the balance between normal cellular signaling and cancer‐promoting activation of the PI3K–AKT pathway."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "6", "end_ref": "11"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nClinically, loss or inactivation of PTEN is a recurrent event across a wide spectrum of human cancers and has profound implications for disease progression and therapeutic responsiveness. Tumors harboring PTEN deficiency often display hyperactivation of the PI3K–AKT pathway that contributes to resistance against targeted therapies such as trastuzumab (in breast cancer), cetuximab (in colorectal cancer), and PI3K or mTOR inhibitors. PTEN loss has additionally been linked to the enrichment of cancer stem–like cells, immune evasion, and even resistance to forms of regulated cell death such as ferroptosis. Collectively, these observations support the emerging notion that PTEN status may serve not only as a prognostic or predictive biomarker but also as a potential therapeutic target when combined with pathway‐selective inhibitors."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "12", "end_ref": "25"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Seung-Rock Lee, Kap-Seok Yang, Jaeyul Kwon, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Reversible inactivation of the tumor suppressor PTEN by H2O2."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M111899200"}], "href": "https://doi.org/10.1074/jbc.M111899200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "11916965"}], "href": "https://pubmed.ncbi.nlm.nih.gov/11916965"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Xinjiang Wang, Lloyd C Trotman, Theresa Koppie, et al. "}, {"type": "b", "children": [{"type": "t", "text": "NEDD4-1 is a proto-oncogenic ubiquitin ligase for PTEN."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.cell.2006.11.039"}], "href": "https://doi.org/10.1016/j.cell.2006.11.039"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17218260"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17218260"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Lloyd C Trotman, Xinjiang Wang, Andrea Alimonti, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Ubiquitination regulates PTEN nuclear import and tumor suppression."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.cell.2006.11.040"}], "href": "https://doi.org/10.1016/j.cell.2006.11.040"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17218261"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17218261"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Wen Hong Shen, Adayabalam S Balajee, Jianli Wang, et al. 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"}, {"type": "b", "children": [{"type": "t", "text": "STAT3 activation of miR-21 and miR-181b-1 via PTEN and CYLD are part of the epigenetic switch linking inflammation to cancer."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Cell (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.molcel.2010.07.023"}], "href": "https://doi.org/10.1016/j.molcel.2010.07.023"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20797623"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20797623"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Yvonne Tay, Lev Kats, Leonardo Salmena, et al. 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"}, {"type": "b", "children": [{"type": "t", "text": "p53 and Pten control neural and glioma stem/progenitor cell renewal and differentiation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nature (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/nature07443"}], "href": "https://doi.org/10.1038/nature07443"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18948956"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18948956"}]}, {"type": "r", "ref": 16, "children": [{"type": "t", "text": "Anna Dubrovska, Sungeun Kim, Richard J Salamone, et al. 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"}, {"type": "b", "children": [{"type": "t", "text": "Hypoxic Tumor-Derived Exosomal miR-301a Mediates M2 Macrophage Polarization via PTEN/PI3Kγ to Promote Pancreatic Cancer Metastasis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cancer Res (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1158/0008-5472.CAN-17-3841"}], "href": "https://doi.org/10.1158/0008-5472.CAN-17-3841"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29880482"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29880482"}]}, {"type": "r", "ref": 25, "children": [{"type": "t", "text": "Junmei Yi, Jiajun Zhu, Jiao Wu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Oncogenic activation of PI3K-AKT-mTOR signaling suppresses ferroptosis via SREBP-mediated lipogenesis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Proc Natl Acad Sci U S A (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1073/pnas.2017152117"}], "href": "https://doi.org/10.1073/pnas.2017152117"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "33229547"}], "href": "https://pubmed.ncbi.nlm.nih.gov/33229547"}]}]}]}
Synonyms	DEC, MHAM, PTEN1, PTENbeta, BZS, TEP1, CWS1, GLM2, MMAC1
Proteins	PTEN_HUMAN
NCBI Gene ID	5728
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

PTEN has 30,142 functional associations with biological entities spanning 9 categories (molecular profile, organism, functional term, phrase or reference, chemical, disease, phenotype or trait, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 152 datasets.

Click the + buttons to view associations for PTEN from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

PTEN Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Achilles Cell Line Gene Essentiality Profiles	cell lines with fitness changed by PTEN gene knockdown relative to other cell lines from the Achilles Cell Line Gene Essentiality Profiles dataset.
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of PTEN gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of PTEN gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of PTEN gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of PTEN gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of PTEN gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of PTEN gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	Biocarta Pathways	pathways involving PTEN protein from the Biocarta Pathways dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of PTEN gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of PTEN gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of PTEN gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of PTEN gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of PTEN gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of PTEN gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Gene Mutation Profiles	cell lines with PTEN gene mutations from the CCLE Cell Line Gene Mutation Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with PTEN protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with PTEN gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of PTEN gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of PTEN gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of PTEN gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations	phenotypes associated with PTEN gene from the curated ClinVar Gene-Phenotype Associations dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with PTEN gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of PTEN gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing PTEN protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing PTEN protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing PTEN protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with PTEN protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with PTEN protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of PTEN gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with PTEN gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with PTEN gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with PTEN gene/protein from the curated CTD Gene-Disease Associations dataset.
	dbGAP Gene-Trait Associations	traits associated with PTEN gene in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of PTEN protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by PTEN gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DEPOD Substrates of Phosphatases	phosphatases that dephosphorylate PTEN protein from the curated DEPOD Substrates of Phosphatases dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores	diseases involving PTEN gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving PTEN gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores	diseases associated with PTEN gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with PTEN gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.